{"id":"W4283068919","doi":"10.1002/bdr2.2058","title":"Genotype–phenotype spectrum and correlations in <scp>Xia‐Gibbs</scp> syndrome: Report of five novel cases and literature review","year":2022,"lang":"en","type":"review","venue":"Birth Defects Research","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"","keywords":"Phenotype; Epigenetics; Genetics; Biology; Genotype; Exome sequencing; DNA methylation; Gene; Loss function; Genome instability; Exome; Hypotonia; DNA damage; DNA; Gene expression","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003381069,0.0008470987,0.0008483034,0.004564647,0.000488341,0.0009066517,0.0008008299,0.001005366,0.001590337],"category_scores_gemma":[0.0009505398,0.0003266596,0.0005068448,0.00285822,0.0009076388,0.0005787602,0.0007174474,0.0004350015,0.0005988586],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003293636,"about_ca_system_score_gemma":0.0003859253,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007186733,"about_ca_topic_score_gemma":0.0006889136,"domain_scores_codex":[0.9994897,0.00004754691,0.000210484,0.0001215803,0.00006605492,0.00006458828],"domain_scores_gemma":[0.9992276,0.0003123952,0.0002436345,0.00006700797,0.00006920172,0.00008011189],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0001695107,0.0001197671,0.05892449,0.003255038,0.0004548067,0.8002725,0.001043876,0.0005787288,0.008916993,0.0006923894,0.004392525,0.1211793],"study_design_scores_gemma":[0.0000177801,0.00005381626,0.02325945,0.0003985014,0.0003223032,0.9619496,0.0002987446,0.000181503,0.001466483,0.0004476483,0.01156769,0.00003636581],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.6518312,0.3222072,0.009087763,0.001693546,0.0006029253,0.0003047529,0.001409519,0.0003750259,0.01248821],"genre_scores_gemma":[0.8719823,0.1193878,0.004044662,0.000731134,0.0009615713,0.00008969975,0.001301019,0.00006189498,0.001439846],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.004564647,"threshold_uncertainty_score":0.005320251,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04832447169163216,"score_gpt":0.3553368163679377,"score_spread":0.3070123446763056,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}